Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

I. Carbone, C. Bruno, F. Sotgia, M. Bado, P. Broda, E. Masetti, A. Panella, F. Zara, F. Dagna Bricarelli, G. Cordone, M. P. Lisanti, Carlo Minetti

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.

Original languageEnglish
Pages (from-to)1373-1376
Number of pages4
JournalNeurology
Volume54
Issue number6
Publication statusPublished - Mar 28 2000

Keywords

  • CAV3 gene HyperCKemia
  • Caveolin-3

ASJC Scopus subject areas

  • Neuroscience(all)

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